Cargando…

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset Pompe disease (IOPD) early enough so a timely treatment can be instituted. Since 2015, the National Taiwan University NBS Center has changed the method for Pompe disease NBS from fluorometric assay to tandem mass...

Descripción completa

Detalles Bibliográficos
Autores principales: Chiang, Shu-Chuan, Chien, Yin-Hsiu, Chang, Kai-Ling, Lee, Ni-Chung, Hwu, Wuh-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422994/
https://www.ncbi.nlm.nih.gov/pubmed/33073026
http://dx.doi.org/10.3390/ijns6020030
_version_ 1783570099167297536
author Chiang, Shu-Chuan
Chien, Yin-Hsiu
Chang, Kai-Ling
Lee, Ni-Chung
Hwu, Wuh-Liang
author_facet Chiang, Shu-Chuan
Chien, Yin-Hsiu
Chang, Kai-Ling
Lee, Ni-Chung
Hwu, Wuh-Liang
author_sort Chiang, Shu-Chuan
collection PubMed
description Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset Pompe disease (IOPD) early enough so a timely treatment can be instituted. Since 2015, the National Taiwan University NBS Center has changed the method for Pompe disease NBS from fluorometric assay to tandem mass assay. From 2016 to 2019, 14 newborns were reported as high-risk for Pompe disease at a median age of 9 days (range 6–13), and 18 were with a borderline risk at a median age of 13 days (9–28). None of the borderline risks were IOPD patients. Among the 14 at a high-risk of Pompe disease, four were found to have cardiomyopathy, and six were classified as potential late-onset Pompe disease. The four classic IOPD newborns, three of the four having at least one allele of the cross-reactive immunologic material (CRIM)-positive variant, started enzyme replacement therapy (ERT) at a median age of 9 days (8–14). Western Blot analysis and whole gene sequencing confirmed the CRIM-positive status in all cases. Here, we focus on the patient without the known CRIM-positive variant. Doing ERT before knowing the CRIM status created a dilemma in the decision and was discussed in detail. Our Pompe disease screening and diagnostic program successfully detected and treated patients with IOPD in time. However, the timely exclusion of a CRIM-negative status, which is rare in the Chinese population, is still a challenging task.
format Online
Article
Text
id pubmed-7422994
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-74229942020-10-15 The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan Chiang, Shu-Chuan Chien, Yin-Hsiu Chang, Kai-Ling Lee, Ni-Chung Hwu, Wuh-Liang Int J Neonatal Screen Article Pompe disease Newborn screening (NBS) aims at diagnosing patients with infantile-onset Pompe disease (IOPD) early enough so a timely treatment can be instituted. Since 2015, the National Taiwan University NBS Center has changed the method for Pompe disease NBS from fluorometric assay to tandem mass assay. From 2016 to 2019, 14 newborns were reported as high-risk for Pompe disease at a median age of 9 days (range 6–13), and 18 were with a borderline risk at a median age of 13 days (9–28). None of the borderline risks were IOPD patients. Among the 14 at a high-risk of Pompe disease, four were found to have cardiomyopathy, and six were classified as potential late-onset Pompe disease. The four classic IOPD newborns, three of the four having at least one allele of the cross-reactive immunologic material (CRIM)-positive variant, started enzyme replacement therapy (ERT) at a median age of 9 days (8–14). Western Blot analysis and whole gene sequencing confirmed the CRIM-positive status in all cases. Here, we focus on the patient without the known CRIM-positive variant. Doing ERT before knowing the CRIM status created a dilemma in the decision and was discussed in detail. Our Pompe disease screening and diagnostic program successfully detected and treated patients with IOPD in time. However, the timely exclusion of a CRIM-negative status, which is rare in the Chinese population, is still a challenging task. MDPI 2020-04-01 /pmc/articles/PMC7422994/ /pubmed/33073026 http://dx.doi.org/10.3390/ijns6020030 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Chiang, Shu-Chuan
Chien, Yin-Hsiu
Chang, Kai-Ling
Lee, Ni-Chung
Hwu, Wuh-Liang
The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
title The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
title_full The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
title_fullStr The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
title_full_unstemmed The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
title_short The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan
title_sort timely needs for infantile onset pompe disease newborn screening—practice in taiwan
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422994/
https://www.ncbi.nlm.nih.gov/pubmed/33073026
http://dx.doi.org/10.3390/ijns6020030
work_keys_str_mv AT chiangshuchuan thetimelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan
AT chienyinhsiu thetimelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan
AT changkailing thetimelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan
AT leenichung thetimelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan
AT hwuwuhliang thetimelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan
AT chiangshuchuan timelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan
AT chienyinhsiu timelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan
AT changkailing timelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan
AT leenichung timelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan
AT hwuwuhliang timelyneedsforinfantileonsetpompediseasenewbornscreeningpracticeintaiwan